"GeneDx"[submitter] AND "ATN1"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
Select item 2497949	NM_001940.4(ATN1):c.467C>T (p.Ala156Val)	ATN1 (A156V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304826	NM_001940.4(ATN1):c.513G>A (p.Pro171=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3372619	NM_001940.4(ATN1):c.916G>A (p.Ala306Thr)	ATN1 (A305T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722931	NM_001940.4(ATN1):c.1106C>T (p.Pro369Leu)	ATN1 (P369L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420621	NM_001007026.1(ATN1):c.1462CAG[23] (p.Gln488[23])	ATN1, LOC109461484	Microsatellite (inframe_insertion)	not specified	GLikely benign
Select item 599473	NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup)	ATN1, LOC109461484	Microsatellite (inframe_insertion)	not provided +3 more	GBenign/Likely benign
Select item 210377	NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])	ATN1, LOC109461484	Microsatellite (inframe_insertion)	Dentatorubral-pallidoluysian atrophy +2 more	GConflicting classifications of pathogenicity
Select item 3370105	NM_001940.4(ATN1):c.1465C>G (p.Gln489Glu)	ATN1, LOC109461484 (Q488E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187119	NM_001940.4(ATN1):c.1467G>A (p.Gln489=)	ATN1, LOC109461484	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3368922	NM_001940.4(ATN1):c.1522G>T (p.Gly508Trp)	ATN1 (G500W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311217	NM_001940.4(ATN1):c.1604_1607del (p.Ser535fs)	ATN1 (S535fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3369424	NM_001940.4(ATN1):c.1721del (p.Ser574fs)	ATN1 (S566fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1306081	NM_001940.4(ATN1):c.2264_2270delinsTTGTACA (p.Asp755_Pro757delinsValValHis)	ATN1, LOC130007290	Indel (missense variant)	not provided	GUncertain significance
Select item 1196275	NM_001940.4(ATN1):c.2270C>A (p.Pro757His)	ATN1, LOC130007290 (P757H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810647	NM_001940.4(ATN1):c.2285_2288del (p.Gln762fs)	ATN1, LOC130007290 (Q762fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 128462	NM_001940.4(ATN1):c.2430C>A (p.Arg810=)	ATN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1801899	NM_001940.4(ATN1):c.2463_2486dup (p.Glu830_Lys831insArgGluLysGluArgGluArgGlu)	ATN1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1711877	NM_001940.4(ATN1):c.2617C>T (p.Pro873Ser)	ATN1 (P873S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579839	NM_001940.4(ATN1):c.2626C>G (p.Leu876Val)	ATN1 (L868V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372218	NM_001940.4(ATN1):c.3051T>G (p.Tyr1017Ter)	ATN1 (Y1009* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1310674	NM_001940.4(ATN1):c.3058_3072del (p.Leu1021_Arg1025del)	ATN1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1704111	NM_001940.4(ATN1):c.3118G>C (p.Ala1040Pro)	ATN1 (A1040P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012272	NM_001940.4(ATN1):c.3165_3176del (p.Ile1057_His1060del)	ATN1	Deletion (inframe_deletion)	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +1 more	GPathogenic
Select item 1027368	NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3])	ATN1	Microsatellite (inframe_insertion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 451008	NM_001940.4(ATN1):c.3177_3178insGACCTG (p.Ser1059_His1060insAspLeu)	ATN1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 421998	NM_001940.4(ATN1):c.3177_3178insAACCTG (p.Ser1059_His1060insAsnLeu)	ATN1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 191276	NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr)	ATN1 (H1060Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 386404	NM_001940.4(ATN1):c.3184C>G (p.His1062Asp)	ATN1 (H1062D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369453	NM_001940.4(ATN1):c.3254C>A (p.Ser1085Ter)	ATN1 (S1077* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 3360152	NM_001940.4(ATN1):c.1185_1198del (p.Ala396fs)	ATN1 (A395fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3359862	NM_001940.4(ATN1):c.225_226del (p.Glu75fs)	ATN1 (E75fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance

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Items: 35